MCID: ATS173
MIFTS: 24

Autism 18

Categories: Genetic diseases, Rare diseases, Mental diseases

Aliases & Classifications for Autism 18

MalaCards integrated aliases for Autism 18:

Name: Autism 18 54 71
Auts18 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32

Classifications:



Summaries for Autism 18

OMIM : 54
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. (615032)

MalaCards based summary : Autism 18, also known as auts18, is related to autism spectrum disorder susceptibility, chd8-related, and has symptoms including hypertelorism, macrocephaly and autism. An important gene associated with Autism 18 is CHD8 (Chromodomain Helicase DNA Binding Protein 8). The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone.

UniProtKB/Swiss-Prot : 71 Autism 18: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Related Diseases for Autism 18

Diseases in the Autism Spectrum Disorder family:

Autism 19 Autism 9
Autism 10 Autism 18

Diseases related to Autism 18 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autism spectrum disorder susceptibility, chd8-related 10.8

Symptoms & Phenotypes for Autism 18

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
tall (86%)

Head And Neck- Eyes:
supraorbital ridge (78%)
downslanting palpebral fissures (67%)

Neurologic- Central Nervous System:
autism (80%)
intellectual disability (60%)
seizures (20%)
regression (47%)

Head And Neck- Head:
macrocephaly (80%)

Abdomen- Gastroin testinal:
gastrointestinal problems (80%)
constipation (60%)

Neurologic- Behavioral Psychiatric Manifestations:
sleep disturbances (67%)
difficulty falling asleep (44%)


Clinical features from OMIM:

615032

Human phenotypes related to Autism 18:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 macrocephaly 32 HP:0000256
3 autism 32 HP:0000717
4 pointed chin 32 HP:0000307
5 pes planus 32 HP:0001763
6 wide nose 32 HP:0000445
7 prominent supraorbital ridges 32 HP:0000336

Drugs & Therapeutics for Autism 18

Drugs for Autism 18 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
3 Antiparkinson Agents Phase 4,Phase 2
4 Dopamine Agents Phase 4,Phase 2
5 Excitatory Amino Acid Antagonists Phase 4,Phase 2
6 Excitatory Amino Acids Phase 4,Phase 2
7 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
8
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
9
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
10 Antidepressive Agents Phase 3
11 Antidepressive Agents, Second-Generation Phase 3
12 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
13 Cytochrome P-450 Enzyme Inhibitors Phase 3
14 Neurotransmitter Uptake Inhibitors Phase 3
15 Psychotropic Drugs Phase 3,Phase 2
16
Serotonin Phase 3 50-67-9 5202
17 Serotonin Agents Phase 3
18 Serotonin Uptake Inhibitors Phase 3
19 Fluorodeoxyglucose F18 Phase 3
20 triamcinolone acetonide Phase 3
21 Triamcinolone diacetate Phase 3
22 Triamcinolone hexacetonide Phase 3
23
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
24
Donepezil Approved Phase 2 120014-06-4 3152
25 Orange Approved, Nutraceutical Phase 2
26
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
27
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
29 Antibodies Phase 2
30 gamma-Globulins Phase 2
31 Gastrointestinal Agents Phase 2
32 Immunoglobulins Phase 2
33 Immunoglobulins, Intravenous Phase 2
34 Rho(D) Immune Globulin Phase 2
35 Protective Agents Phase 2,Phase 1
36 Sulforafan Phase 2
37 Antioxidants Phase 2,Phase 1
38 Anti-Inflammatory Agents Phase 2
39 Bone Density Conservation Agents Phase 2
40 Ergocalciferols Phase 2
41 Micronutrients Phase 2
42 Trace Elements Phase 2
43 Vitamins Phase 2
44 Antipsychotic Agents Phase 2
45 Central Nervous System Depressants Phase 2,Phase 1
46 Tranquilizing Agents Phase 2
47 Cholinergic Agents Phase 2
48 Cholinesterase Inhibitors Phase 2
49 Nootropic Agents Phase 2
50
Sulforaphane Investigational, Nutraceutical Phase 2 142825-10-3, 4478-93-7 5350

Interventional clinical trials:

(show top 50) (show all 60)

id Name Status NCT ID Phase Drugs
1 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
2 Study of Fluoxetine in Autism Completed NCT00515320 Phase 3 Fluoxetine;Placebo
3 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
4 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
5 Extended Management and Measurement of Autism Terminated NCT00787111 Phase 3 Fluoxetine (prozac)
6 Safety and Efficacy Study in the Treatment of Intestinal Problems Associated With Autism Unknown status NCT00110708 Phase 2 Oralgam (human immunoglobulin)
7 Sulforaphane-rich Broccoli Sprout Extract for Autism Completed NCT01474993 Phase 2 Sulforaphane-rich Broccoli Sprout Extract;Placebo
8 Nutritional Intervention in Children With Autism Using Whey Protein (Immunocal): Impact on Core Areas of Behavior Completed NCT01366859 Phase 2
9 Effects of the Anti-inflammatory Flavonoid Luteolin on Behavior in Children With Autism Spectrum Disorders Completed NCT01847521 Phase 2
10 Omega-3 Fatty Acids for Hyperactivity Treatment in Autism Spectrum Disorder Completed NCT01694667 Phase 2 Omega-3 Fatty Acids
11 A Study Evaluating the Effect of Vitamin D on Clinical Outcome in Autistic Children Completed NCT02550912 Phase 2 Vitamin D3
12 Aripiprazole in Children With Autism: A Pilot Study Completed NCT00208533 Phase 2 Aripiprazole
13 Open-label Study of Safety and Tolerability of Memantine in Children With Autism Completed NCT01999894 Phase 2 Memantine HCl
14 Targeting GABA-A for the Treatment of Social Disability in Young Adults With Autism Spectrum Disorders: A Phase II Proof of Mechanism Trial Completed NCT01966679 Phase 2 AZD7325;Placebo
15 Study of Pharmacokinetics, Safety, Efficacy, and Tolerability of Memantine in Children With Autism Completed NCT00872898 Phase 2 Memantine - Extended Release (ER);Placebo
16 A Trial of the Drug Donepezil for Sleep Enhancement and Behavioral Change in Children With Autism Terminated NCT01887132 Phase 2 Donepezil;Placebo
17 Collaborative Study Of Neurofeedback Training Of 6-18 Year Olds With Autism Unknown status NCT01154777 Phase 1
18 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB
19 Diet and Behavior in Young Children With Autism Completed NCT00090428 Phase 1
20 Melatonin for Sleep in Children With Autism Completed NCT00927030 Phase 1 supplemental liquid melatonin;flavored liquid or liquid supplemental melatonin
21 Brain Imaging Study of Adults With Autism Spectrum Disorders Completed NCT01093768 Phase 1 Oxytocin;Vasopressin
22 Evaluation of Two Radioactive Chemicals to Image mGluR5 Receptors in Brain Completed NCT01896843 Phase 1 STX107
23 Glutaminergic Transmission in Autism : Molecular Imaging Exploration Recruiting NCT02719951 Phase 1 [18F]FPEB PET imaging
24 Associative Memory in Adults With an Autism Spectrum Disorder Unknown status NCT02279680
25 Parent-supported Social Skills Training for Teens With Autism Spectrum Disorders (PEERS-K) Unknown status NCT01501058
26 Sensory Processing Difficulties in Adults and Adolescents Unknown status NCT02205658
27 Early Connections, Early Detection and Intervention in Infants at Risk for Autism Completed NCT00947700
28 Show Me to Help Me Completed NCT01311596
29 Autism Intervention Research Network for Behavioral Health (AIR-B II): Deployment Into Elementary Schools Completed NCT01724047
30 SynapDx Autism Gene Expression Analysis Study Completed NCT01716845
31 SynapDx Autism Gene Expression Analysis Study (STORY) Completed NCT01810341
32 A Controlled Trial of the Clinical Effects of Hyperbaric Therapy in Autistic Children Completed NCT00335790
33 Study of Toddlers With Language Delay Completed NCT01339767
34 Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Completed NCT00496210
35 A Bicycle Training Intervention Completed NCT02046889
36 Study to Assess the Janssen Autism Knowledge Engine in Participants With Autism Spectrum Disorder and in a Normally Developing Cohort Completed NCT02668991 Early Phase 1
37 Social Cognition and Turner Syndrome Completed NCT01687842
38 Testing a Possible Cause of Reduced Ability of Children to Process Speech in Noise Completed NCT00001957
39 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
40 Cerebral Activity Related to Primary Motor Stereotypies in Children: An EEG Study. Completed NCT01037361
41 Targeting Sleep in Kids With Autism Spectrum Disorder Recruiting NCT02755051
42 Changing Developmental Trajectories Through Early Treatment Recruiting NCT01985022
43 Confirmatory Efficacy Trial of Cognitive Enhancement Therapy for Adult Autism Spectrum Disorder Recruiting NCT03170453
44 The Multi-Media Social Skills Project for Adults Recruiting NCT02995564
45 Do Sleep and Circadian Rhythm Disturbances Impact the Cognitive and Behavioural Development of Children With Autism? Recruiting NCT02878499
46 Headsprout Reading Program in Children With Autism Spectrum Disorder and Reading Delay Recruiting NCT03055533
47 Pivotal Response Treatment (PRT) Telemedicine Recruiting NCT03045263
48 Correlation of CXCR4 Expression in Premature Infants With a Diagnosis of Autism at 24 Months Recruiting NCT01686685
49 Detection of ASD at the 1st Birthday as Standard of Care: The Get SET Early Model Recruiting NCT02463422
50 Mirror Neuron Network Dysfunction as an Early Biomarker of Neurodevelopmental Disorder Recruiting NCT03307317

Search NIH Clinical Center for Autism 18

Genetic Tests for Autism 18

Anatomical Context for Autism 18

MalaCards organs/tissues related to Autism 18:

39
Brain, Testes, Bone, Tongue

Publications for Autism 18

Variations for Autism 18

ClinVar genetic disease variations for Autism 18:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHD8 CHD8, 1-BP INS, T insertion risk factor
2 CHD8 CHD8, SER62TER undetermined variant risk factor
3 CHD8 CHD8, 1-BP INS, T insertion risk factor
4 CHD8 CHD8, NT3519, A-G, -2 single nucleotide variant risk factor
5 CHD8 NM_020920.3(CHD8): c.2875C> T (p.Gln959Ter) single nucleotide variant risk factor rs397514551 GRCh37 Chromosome 14, 21871178: 21871178
6 CHD8 NM_020920.3(CHD8): c.3172C> T (p.Arg1058Ter) single nucleotide variant risk factor rs397514552 GRCh37 Chromosome 14, 21870169: 21870169
7 CHD8 CHD8, 4-BP DEL, CTTC deletion risk factor
8 CHD8 CHD8, 2-BP DEL, CT deletion risk factor
9 CHD8 CHD8, 3-BP DEL, GGT deletion risk factor
10 CHD8 NM_020920.3(CHD8): c.4290+1G> A single nucleotide variant Likely pathogenic rs794727436 GRCh37 Chromosome 14, 21863975: 21863975
11 CHD8 NM_001170629.1(CHD8): c.2317C> T (p.Arg773Ter) single nucleotide variant Likely pathogenic rs776631057 GRCh38 Chromosome 14, 21409898: 21409898
12 CHD8 NM_001170629.1(CHD8): c.1744C> T (p.Arg582Ter) single nucleotide variant Likely pathogenic rs863224857 GRCh38 Chromosome 14, 21415880: 21415880
13 CHD8 NM_020920.3(CHD8): c.4429dupT (p.Tyr1477Leufs) duplication Pathogenic rs886043086 GRCh37 Chromosome 14, 21863195: 21863195
14 CHD8 NM_001170629.1(CHD8): c.6518C> A (p.Ser2173Ter) single nucleotide variant Pathogenic rs781575717 GRCh38 Chromosome 14, 21392760: 21392760
15 CHD8 NM_001170629.1(CHD8): c.2434C> T (p.Arg812Trp) single nucleotide variant Likely pathogenic rs1057518651 GRCh37 Chromosome 14, 21876915: 21876915
16 CHD8 NM_001170629.1(CHD8): c.6103C> T (p.Arg2035Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691627 GRCh37 Chromosome 14, 21861851: 21861851
17 CHD8 NM_001170629.1(CHD8): c.347delC (p.Thr116Asnfs) deletion Pathogenic rs1135401763 GRCh38 Chromosome 14, 21431297: 21431297
18 CHD8 NM_020920.3(CHD8): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21402494: 21402494

Expression for Autism 18

Search GEO for disease gene expression data for Autism 18.

Pathways for Autism 18

GO Terms for Autism 18

Sources for Autism 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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